Genetic biomarkers are measurable features of an organism's genetic and epigenetic material, such as DNA sequence variants, gene-expression patterns, non-coding RNAs, and DNA modifications, that indicate biological state or predict the risk, presence, behaviour, or treatment response of disease. In cancer they are u…
Genetic biomarkers are measurable features of an organism's genetic and epigenetic material, such as DNA sequence variants, gene-expression patterns, non-coding RNAs, and DNA modifications, that indicate biological state or predict the risk, presence, behaviour, or treatment response of disease. In cancer they are used to detect malignancy, distinguish disease subtypes, stratify risk, and guide therapy. The category spans both genetic and epigenetic markers: alterations in DNA sequence and the expression of regulatory molecules, as well as epigenetic biomarkers such as those investigated in head and neck cancer and the long non-coding RNAs emerging as potential markers of tobacco- and alcohol-related head and neck cancer. Circulating molecular signatures, including microRNA expression patterns, contribute markers that track tumour progression and outcome, while immunogenomic and immunoassay approaches extend marker discovery to the monitoring of cancer and infectious disease. Beyond oncology, genetic and metabolomic profiling is applied to chronic conditions, as in the bioinformatic analysis of metabolomics in type 2 diabetes. Significance lies in enabling precision approaches in which diagnosis, prognosis, and treatment are matched to an individual's molecular profile. Principal sub-areas include germline and somatic sequence variants, gene-expression and RNA-based markers, epigenetic biomarkers, circulating molecular signatures, and the bioinformatic and analytical methods used to identify and validate them.
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The 7 articles above have been cited 19 times in the scholarly literature. Citation data via OpenAlex and Crossref, updated Jun 2026.
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